Study of Transient Myeloproliferative Disorder in Children with Down Syndrome

Clinical Trial Title

Biology study of transient myeloproliferative disorder (TMD) in children with Down syndrome (DS).

Contact Information

Nitin Sane

Clinical Trial Protocol Description:

Transient myeloproliferative disease (TMD) has been estimated to occur in up to 10% of infants with Down syndrome (DS). TMD is a heterogeneous disease, which encompasses a spectrum of clinical presentations. Some infants appear healthy and are diagnosed with TMD due to the incidental finding of circulating leukemia cells on a peripheral blood smear. Other infants with TMD either die inutero or are born critically ill with severe hydrops, organomegaly, and hepatic fibrosis with liver failure. Approximately 30% of TMD survivors develop leukemia later in life.

The biological determinants of these vast differences in clinical presentation and  disease free survival are not understood. Thus, the primary goal of this study is to link the clinical characteristics of TMD patients to the biological features of this disease, defining the relationship between molecular properties and outcome in this unique patient population.

Clinical Trial Eligibility Criteria:

In order to participate you must meet the following criteria:

  • Are less than 90 days of age at diagnosis of TMD.
  • Have a diagnosis of TMD defined as the following:
    • A diagnosis of Down syndrome or Down syndrome mosaicism. Patients may be enrolled on study prior to cytogenetic or FISH confirmation of the diagnosis if the typical physical characteristics of Down syndrome are present (see Appendix  II). However confirmation of diagnosis must occur within 21 days of enrollment.
    • Non-erythroid and non-lymphoid blasts (any amount) in the peripheral blood verified with a second sample.

This is a partial list of eligibility requirements.

Study Details

Clinical Trial Investigator

Mary Lou Schmidt, MD

Contact Information

Nitin Sane

(312) 355-0741


RUSH University Medical Center

1620 W Harrison St
Chicago, IL 60612

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